CX3CL1 — 84 ClinVar variants
All ClinVar germline CX3CL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 68 flagged for review →
7 Benign · 10 Likely benign · 67 Uncertain significance
Full CX3CL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 68
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 46
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CX3CL1 p.Ala117Val Uncertain significance Single submitter
- CX3CL1 p.Ala228Asp Uncertain significance Single submitter
- CX3CL1 p.Ala235Asp Uncertain significance Single submitter
- CX3CL1 p.Ala235Ser Uncertain significance Single submitter
- CX3CL1 p.Ala274Asp Uncertain significance Single submitter
- CX3CL1 p.Ala334Thr Uncertain significance Single submitter
- CX3CL1 p.Ala336Ser Uncertain significance Single submitter
- CX3CL1 p.Ala336Thr Uncertain significance Single submitter
- CX3CL1 p.Arg11Leu Uncertain significance Single submitter
- CX3CL1 p.Arg187Gln Uncertain significance Single submitter
- CX3CL1 p.Arg339Gln Uncertain significance Single submitter
- CX3CL1 p.Arg370Gly Uncertain significance Single submitter
- CX3CL1 p.Arg381His Uncertain significance Single submitter
- CX3CL1 p.Arg91Ser Uncertain significance Single submitter
- CX3CL1 p.Asn258Lys Uncertain significance Single submitter
- CX3CL1 p.Asn390His Uncertain significance Single submitter
- CX3CL1 p.Gln222Lys Uncertain significance Single submitter
- CX3CL1 p.Glu109Lys Uncertain significance Single submitter
- CX3CL1 p.Glu128Gln Uncertain significance Single submitter
- CX3CL1 p.Gly101Ser Uncertain significance Single submitter
- CX3CL1 p.Gly108Ser Uncertain significance Single submitter
- CX3CL1 p.Gly160Ser Uncertain significance Single submitter
- CX3CL1 p.Gly182Ser Uncertain significance Single submitter
- CX3CL1 p.Gly266Ser Uncertain significance Single submitter
- CX3CL1 p.Gly279Arg Uncertain significance Single submitter
- CX3CL1 p.Gly295Arg Uncertain significance Single submitter
- CX3CL1 p.Gly367Ser Uncertain significance Single submitter
- CX3CL1 p.His26Gln Uncertain significance Single submitter
- CX3CL1 p.His27Asn Uncertain significance Single submitter
- CX3CL1 p.His50Arg Uncertain significance Single submitter
- CX3CL1 p.Ile63Val Uncertain significance Single submitter
- CX3CL1 p.Leu169Pro Uncertain significance Single submitter
- CX3CL1 p.Met265Leu Uncertain significance Single submitter
- CX3CL1 p.Phe186Leu Uncertain significance Single submitter
- CX3CL1 p.Pro171Ala Uncertain significance Single submitter
- CX3CL1 p.Pro171Leu Uncertain significance Single submitter
- CX3CL1 p.Pro384Ser Uncertain significance Single submitter
- CX3CL1 p.Pro77Leu Uncertain significance Single submitter
- CX3CL1 p.Ser199Gly Uncertain significance Single submitter
- CX3CL1 p.Ser216Thr Uncertain significance Single submitter
- CX3CL1 p.Ser306Gly Uncertain significance Single submitter
- CX3CL1 p.Ser57Leu Uncertain significance Single submitter
- CX3CL1 p.Thr141Ser Uncertain significance Single submitter
- CX3CL1 p.Thr193Ala Uncertain significance Single submitter
- CX3CL1 p.Thr35Met Uncertain significance Single submitter
- CX3CL1 p.Tyr382Phe Uncertain significance Single submitter
Predictors split 22
The independent predictors disagree with each other — read with care.
- CX3CL1 p.Ala62Val Benign Multiple submitters
- CX3CL1 p.Ala218Thr Uncertain significance Single submitter
- CX3CL1 p.Ala23Asp Uncertain significance Single submitter
- CX3CL1 p.Ala85Thr Uncertain significance Single submitter
- CX3CL1 p.Arg246Cys Uncertain significance Single submitter
- CX3CL1 p.Arg385Trp Uncertain significance Single submitter
- CX3CL1 p.Cys387Arg Uncertain significance Single submitter
- CX3CL1 p.Gly163Cys Uncertain significance Single submitter
- CX3CL1 p.Leu22Met Uncertain significance Single submitter
- CX3CL1 p.Phe73Leu Uncertain significance Single submitter
- CX3CL1 p.Pro140Gln Uncertain significance Single submitter
- CX3CL1 p.Pro219Arg Uncertain significance Single submitter
- CX3CL1 p.Pro219Leu Uncertain significance Single submitter
- CX3CL1 p.Pro224Thr Uncertain significance Single submitter
- CX3CL1 p.Ser208Arg Uncertain significance Single submitter
- CX3CL1 p.Thr159Met Uncertain significance Single submitter
- CX3CL1 p.Thr172Met Uncertain significance Single submitter
- CX3CL1 p.Thr183Met Uncertain significance Single submitter
- CX3CL1 p.Val161Met Uncertain significance Single submitter
- CX3CL1 p.Val188Met Uncertain significance Single submitter
- CX3CL1 p.Val191Ile Uncertain significance Single submitter
- CX3CL1 p.Val291Ile Uncertain significance Single submitter
All CX3CL1 variants
Benign 7
- p.Ala62Val Multiple submitters ⚠
- p.Ala85= Multiple submitters
- p.Ser192= Multiple submitters
- c.191+9T>C Single submitter
- c.70+3384T>G Single submitter
- p.Ala118= Single submitter
- p.Leu260= Single submitter
Likely benign 10
- p.Pro241Leu Multiple submitters
- p.Ala117= Single submitter
- p.Ala118Thr Single submitter
- p.Ala194Thr Single submitter
- p.Ala195Thr Single submitter
- p.Ala377Val Single submitter
- p.Gly119Arg Single submitter
- p.Gly179= Single submitter
- p.Pro207Ser Single submitter
- p.Thr159= Single submitter
Uncertain significance 67
- p.Ala117Val Single submitter ⚠
- p.Ala218Thr Single submitter ⚠
- p.Ala228Asp Single submitter ⚠
- p.Ala235Asp Single submitter ⚠
- p.Ala235Ser Single submitter ⚠
- p.Ala23Asp Single submitter ⚠
- p.Ala274Asp Single submitter ⚠
- p.Ala334Thr Single submitter ⚠
- p.Ala336Ser Single submitter ⚠
- p.Ala336Thr Single submitter ⚠
- p.Ala85Thr Single submitter ⚠
- p.Arg11Leu Single submitter ⚠
- p.Arg187Gln Single submitter ⚠
- p.Arg246Cys Single submitter ⚠
- p.Arg339Gln Single submitter ⚠
- p.Arg370Gly Single submitter ⚠
- p.Arg381His Single submitter ⚠
- p.Arg385Trp Single submitter ⚠
- p.Arg91Ser Single submitter ⚠
- p.Asn258Lys Single submitter ⚠
- p.Asn390His Single submitter ⚠
- p.Cys387Arg Single submitter ⚠
- p.Gln222Lys Single submitter ⚠
- p.Glu109Lys Single submitter ⚠
- p.Glu128Gln Single submitter ⚠
- p.Gly101Ser Single submitter ⚠
- p.Gly108Ser Single submitter ⚠
- p.Gly160Ser Single submitter ⚠
- p.Gly163Cys Single submitter ⚠
- p.Gly182Ser Single submitter ⚠
- p.Gly266Ser Single submitter ⚠
- p.Gly279Arg Single submitter ⚠
- p.Gly295Arg Single submitter ⚠
- p.Gly367Ser Single submitter ⚠
- p.His26Gln Single submitter ⚠
- p.His27Asn Single submitter ⚠
- p.His50Arg Single submitter ⚠
- p.Ile63Val Single submitter ⚠
- p.Leu169Pro Single submitter ⚠
- p.Leu22Met Single submitter ⚠
- p.Met265Leu Single submitter ⚠
- p.Phe186Leu Single submitter ⚠
- p.Phe73Leu Single submitter ⚠
- p.Pro140Gln Single submitter ⚠
- p.Pro171Ala Single submitter ⚠
- p.Pro171Leu Single submitter ⚠
- p.Pro219Arg Single submitter ⚠
- p.Pro219Leu Single submitter ⚠
- p.Pro224Thr Single submitter ⚠
- p.Pro384Ser Single submitter ⚠
- p.Pro77Leu Single submitter ⚠
- p.Ser199Gly Single submitter ⚠
- p.Ser208Arg Single submitter ⚠
- p.Ser216Thr Single submitter ⚠
- p.Ser306Gly Single submitter ⚠
- p.Ser57Leu Single submitter ⚠
- p.Thr141Ser Single submitter ⚠
- p.Thr159Met Single submitter ⚠
- p.Thr172Met Single submitter ⚠
- p.Thr183Met Single submitter ⚠
- p.Thr193Ala Single submitter ⚠
- p.Thr35Met Single submitter ⚠
- p.Tyr382Phe Single submitter ⚠
- p.Val161Met Single submitter ⚠
- p.Val188Met Single submitter ⚠
- p.Val191Ile Single submitter ⚠
- p.Val291Ile Single submitter ⚠